Polycystic kidney disease (PKD) Flashcards
What is PKD?
Genetic condition where the kidneys develop multiple fluid-filled cysts leading to impaired kidney function
1) Which inheritance pattern is most common?
2) Which inheritance pattern is the most severe?
1) Autosomal dominant
2) Autosomal recessive
1) There are 2 types of autosomal dominant PKD - PKD1 and PKD2 - which is the most common?
2) Which chromosome is the gene responsible for PKD1 on?
3) Which chromosome is the gene responsible for PKD2 on?
1) PKD1
2) 16
3) 4
How is it diagnosed (2)?
Kidney ultrasound and genetic testing
Name 2 extra-renal manifestations of this condition
- Cerebral aneurysms
- Hepatic, splenic, pancreatic, ovarian and prostatic cysts
- Cardiac valve disease (mitral regurgitation)
- Colonic diverticula
- Aortic root dilatation
Name 2 complications of PKD
- Chronic loin pain
- Hypertension
- Cardiovascular disease
- Gross haematuria can occur with cyst rupture
- Renal stones more common
- End-stage renal failure (mean age 50)
1) Autosomal recessive PKD is caused by a gene on what chromosome?
2) It often presents in pregnancy with what?
3) What does this mean?
4) Why does it present this way?
1) 6
2) Oligohydramnios
3) Disorder of amniotic fluid resulting in decreased amniotic fluid volume for gestational age
4) Foetus doesn’t produce enough urine
1) What drug can slow the development of cysts and the progression of renal failure in autosomal dominant PKD?
2) What type of drugs is this?
3) Name 2 other aspects of the management of PKD
1) Tolvaptan
2) ADH receptor antagonist
3) Genetic counselling, avoid contact sports to (risk of cyst rupture), avoid anti-inflammatory medications and anticoagulants, regular ultrasound to monitor the cysts, regular bloods to monitor renal function, regular BP to monitor for hypertension, support complications i.e. antihypertensives for hypertension, analgesia for pain due to stones or cysts, antibiotics for infection
